PMID- 23598965
OWN - NLM
STAT- MEDLINE
DCOM- 20130718
LR  - 20130513
IS  - 1532-0979 (Electronic)
IS  - 0147-5185 (Linking)
VI  - 37
IP  - 6
DP  - 2013 Jun
TI  - TFE3 break-apart FISH has a higher sensitivity for Xp11.2 
      translocation-associated renal cell carcinoma compared with TFE3 or cathepsin K 
      immunohistochemical staining alone: expanding the morphologic spectrum.
PG  - 804-15
LID - 10.1097/PAS.0b013e31827e17cb [doi]
AB  - Renal cell carcinoma (RCC) associated with Xp11.2 translocation is uncommon, 
      characterized by several different translocations involving the TFE3 gene. We 
      assessed the utility of break-apart fluorescence in situ hybridization (FISH) in 
      establishing the diagnosis for suspected or unclassified cases with negative or 
      equivocal TFE3 immunostaining by analyzing 24 renal cancers with break-apart TFE3 
      FISH and comparing the molecular findings with the results of TFE3 and cathepsin 
      K immunostaining in the same tumors. Ten tumors were originally diagnosed as 
      Xp11.2 RCC on the basis of positive TFE3 immunostaining, and 14 were originally 
      considered unclassified RCCs with negative or equivocal TFE3 staining, but with a 
      range of features suspicious for Xp11.2 RCC. Seventeen cases showed TFE3 
      rearrangement associated with Xp11.2 translocation by FISH, including all 13 
      tumors with moderate or strong TFE3 (n=10) or cathepsin K (n=7) immunoreactivity. 
      FISH-positive cases showed negative or equivocal immunoreactivity for TFE3 or 
      cathepsin K in 7 and 10 tumors, respectively (both=3). None had positive 
      immunohistochemistry but negative FISH. Morphologic features were typical for 
      Xp11.2 RCC in 10/17 tumors. Unusual features included 1 melanotic Xp11.2 renal 
      cancer, 1 tumor with mixed features of Xp11.2 RCC and clear cell RCC, and other 
      tumors mimicking clear cell RCC, multilocular cystic RCC, or high-grade 
      urothelial carcinoma. Morphology mimicking high-grade urothelial carcinoma has 
      not been previously reported in these tumors. Psammoma bodies, hyalinized stroma, 
      and intracellular pigment were preferentially identified in FISH-positive cases 
      compared with FISH-negative cases. Our results support the clinical application 
      of a TFE3 break-apart FISH assay for diagnosis and confirmation of Xp11.2 RCC and 
      further expand the histopathologic spectrum of these neoplasms to include tumors 
      with unusual features. A renal tumor with pathologic or clinical features highly 
      suggestive of translocation-associated RCC but exhibiting negative or equivocal 
      TFE3 immunostaining should be evaluated by TFE3 FISH assay to fully assess this 
      possibility.
FAU - Rao, Qiu
AU  - Rao Q
AD  - Department of Pathology and Laboratory Medicine, Indiana University School of 
      Medicine, Indianapolis, IN 46202, USA.
FAU - Williamson, Sean R
AU  - Williamson SR
FAU - Zhang, Shaobo
AU  - Zhang S
FAU - Eble, John N
AU  - Eble JN
FAU - Grignon, David J
AU  - Grignon DJ
FAU - Wang, Mingsheng
AU  - Wang M
FAU - Zhou, Xiao-Jun
AU  - Zhou XJ
FAU - Huang, Wenbin
AU  - Huang W
FAU - Tan, Puay-Hoon
AU  - Tan PH
FAU - Maclennan, Gregory T
AU  - Maclennan GT
FAU - Cheng, Liang
AU  - Cheng L
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Surg Pathol
JT  - The American journal of surgical pathology
JID - 7707904
RN  - 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (TFE3 protein, human)
RN  - EC 3.4.- (Cathepsins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/*genetics
MH  - Carcinoma, Renal Cell/*genetics/pathology
MH  - Cathepsins/genetics
MH  - Child
MH  - Chromosomes, Human, Pair 11
MH  - Chromosomes, Human, X
MH  - Female
MH  - Humans
MH  - Immunohistochemistry
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Kidney Neoplasms/*genetics/pathology
MH  - Male
MH  - Middle Aged
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Sensitivity and Specificity
MH  - Translocation, Genetic
MH  - Young Adult
EDAT- 2013/04/20 06:00
MHDA- 2013/07/19 06:00
CRDT- 2013/04/20 06:00
PHST- 2013/04/20 06:00 [entrez]
PHST- 2013/04/20 06:00 [pubmed]
PHST- 2013/07/19 06:00 [medline]
AID - 10.1097/PAS.0b013e31827e17cb [doi]
PST - ppublish
SO  - Am J Surg Pathol. 2013 Jun;37(6):804-15. doi: 10.1097/PAS.0b013e31827e17cb.